IRCCS-spedale Casa Sollievo Della Sofferenza
Istituto Mendel
Viale Cappucini
San Giovani Rotondo
71013
Italy
Faculty, Hospital and Administrative Appointments:
Research activity:
Responsible for numerous on-going research projects funded by the Italian Ministry of Health, Italian Ministry of University and Education, European commission and other organizations involving the understanding of the molecular basis of rare diseases, with specific contributions to cytogenetics, and mapping and cloning of human genes.
Honors and awards:
Has received 20 scientific awards.
Publications:
Author and co-author of 673 papers on international peer reviewed journals and 14 monographic works. His contributions have been quoted under more than 130 entries in the on line catalog Mendelian Inheritance in Man (OMIM).
Memberships in professional societies:
Past President of the Italian Society of medical Cytogenetics (ACIM), the Italian Society of medical Genetics (AIGM), the Italian Society of Human Genetics (SIGU), the Italian Federation for the Study of Inherited Diseases (FISME), Member of the Executive Board of the European Society of Human Genetics (ESHG), Member of numerous scientific committees within important professional and scientific associations and foundations.